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Tangier_Disease

Tangier Disease Deep Research Fallback

⚠️ Fallback MONDO:0008783

Tangier Disease Deep Research Fallback

Provider attempts

  • timeout 120 just research-disorder falcon Tangier_Disease
  • Result: timed out after 120 seconds.
  • Terminal output ended with: Recipe research-disorder was terminated by signal 15.
  • No research/Tangier_Disease-deep-research-falcon.md file was produced.
  • timeout 120 just research-disorder openai Tangier_Disease
  • Result: timed out after 120 seconds.
  • Terminal output ended with: Recipe research-disorder was terminated by signal 15.
  • No research/Tangier_Disease-deep-research-openai.md file was produced.

Evidence scope used

The curation proceeded from generated Orphanet cache ORPHA:31150 plus validator-fetched PubMed caches for the core Tangier disease literature:

  • PMID:22913675 - epidemiology, pathophysiology, and management review.
  • PMID:31751110 - GeneReviews Tangier disease entry.
  • PMID:33994407 - current diagnosis and management review.
  • PMID:10431236, PMID:10431237, PMID:10431238 - independent 1999 ABCA1/Tangier disease discovery papers.
  • PMID:10525055 and PMID:11309399 - ABCA1 lipid-efflux functional studies.
  • PMID:7130397 and PMID:162820 - classic HDL/apolipoprotein kinetics and tissue pathology studies.
  • PMID:27565770 - HDL deficiency diagnosis and treatment review.
  • PMID:39817629 - pediatric clinical presentation and genetic diagnosis cohort.

Curation conclusion

The evidence consistently supports a canonical mechanism in which biallelic ABCA1 pathogenic variants impair apoA-I-mediated cholesterol and phospholipid efflux, blocking HDL particle formation and causing extremely low HDL-C/apoA-I. Reduced cellular cholesterol export leads to cholesteryl ester accumulation in reticuloendothelial tissues and Schwann cells, explaining orange tonsils, hepatosplenomegaly, lymphadenopathy, corneal/skin/nail findings, and peripheral neuropathy. Cardiovascular risk is variable but supported by reviews of reported cases; treatment remains non-curative and focuses on modifiable cardiovascular risk, supportive neuropathy care, tonsillectomy when obstructive, and genetic counseling/family screening.